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Published on: December 3, 2016
Sponastrime dysplasia with abnormal urinary glycosaminoglycans and growth hormone unresponsiveness
Vatcharapan Umpaichitra1, Robert Wallerstein, Salvador Castells
1Pediatric Endocrinology, Department of Pediatrics, State University of New York (SUNY) Health Science Center at Brooklyn (HSCB), 11203, USA. umpaiv07@hscbklyn.edu
Abstract:
Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio. Etiology of this condition is unknown. Radiological findings include a concavity in the posterior two thirds of lumbar vertebral bodies, platyspondyly, thoracolumbar scoliosis, marginal irregularity and striations of metaphyses, and delayed bone age. We report a patient with findings of sponastrime dysplasia and evaluation of urinary glycosaminoglycans with the presence of dermatan sulfate, heparan sulfate, chondroitin 4 sulfate, and chondroitin 6 sulfate. This suggests the etiology of this disorder may be abnormal cartilage metabolism.
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